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Protein

Testosterone 17-beta-dehydrogenase 3

Gene

HSD17B3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.1 Publication

Catalytic activityi

Testosterone + NADP+ = androst-4-ene-3,17-dione + NADPH.

Pathwayi: testosterone biosynthesis

This protein is involved in the pathway testosterone biosynthesis, which is part of Hormone biosynthesis.
View all proteins of this organism that are known to be involved in the pathway testosterone biosynthesis and in Hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei185SubstrateBy similarity1
Active sitei198Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi48 – 77NADPBy similarityAdd BLAST30

GO - Molecular functioni

GO - Biological processi

  • androgen biosynthetic process Source: Reactome
  • male genitalia development Source: ProtInc
  • testosterone biosynthetic process Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS05461-MONOMER.
ZFISH:HS05461-MONOMER.
BRENDAi1.1.1.51. 2681.
1.1.1.64. 2681.
ReactomeiR-HSA-193048. Androgen biosynthesis.
R-HSA-75876. Synthesis of very long-chain fatty acyl-CoAs.
UniPathwayiUPA00367.

Chemistry databases

SwissLipidsiSLP:000001270. [P37058-1]

Names & Taxonomyi

Protein namesi
Recommended name:
Testosterone 17-beta-dehydrogenase 3 (EC:1.1.1.64)
Alternative name(s):
17-beta-hydroxysteroid dehydrogenase type 3
Short name:
17-beta-HSD 3
Short chain dehydrogenase/reductase family 12C member 2
Testicular 17-beta-hydroxysteroid dehydrogenase
Gene namesi
Name:HSD17B3
Synonyms:EDH17B3, SDR12C2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:5212. HSD17B3.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: Reactome
  • intracellular membrane-bounded organelle Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Male pseudohermaphrodism with gynecomastia (MPH)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThese individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place.
See also OMIM:264300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01606756A → T in MPH; Cambridge-2; affects NADPH cofactor binding. 1 PublicationCorresponds to variant rs119481078dbSNPEnsembl.1
Natural variantiVAR_01606865S → L in MPH. 1 PublicationCorresponds to variant rs747329682dbSNPEnsembl.1
Natural variantiVAR_00695380R → Q in MPH; Gaza. 1 PublicationCorresponds to variant rs119481075dbSNPEnsembl.1
Natural variantiVAR_00695480R → W in MPH. 1 PublicationCorresponds to variant rs119481077dbSNPEnsembl.1
Natural variantiVAR_016069130N → S in MPH; Cambridge-1; complete loss of activity. 1 PublicationCorresponds to variant rs119481079dbSNPEnsembl.1
Natural variantiVAR_075369133G → R in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity; no effect on protein abundance; no effect on endoplasmic reticulum location. 1 PublicationCorresponds to variant rs747724352dbSNPEnsembl.1
Natural variantiVAR_016070176Q → P in MPH. 1 PublicationCorresponds to variant rs767259718dbSNPEnsembl.1
Natural variantiVAR_006955203A → V in MPH. 1 PublicationCorresponds to variant rs119481076dbSNPEnsembl.1
Natural variantiVAR_016071205V → E in MPH. 1 PublicationCorresponds to variant rs372027264dbSNPEnsembl.1
Natural variantiVAR_016072208F → I in MPH. 1 Publication1
Natural variantiVAR_016203215E → D in MPH. 1 PublicationCorresponds to variant rs115063639dbSNPEnsembl.1
Natural variantiVAR_006956232S → L in MPH. 1 PublicationCorresponds to variant rs28939085dbSNPEnsembl.1
Natural variantiVAR_006957235M → V in MPH. 1 PublicationCorresponds to variant rs119481074dbSNPEnsembl.1
Natural variantiVAR_016073268C → Y in MPH; complete loss of activity. 1 PublicationCorresponds to variant rs119481080dbSNPEnsembl.1
Natural variantiVAR_016074282P → L in MPH. 1 PublicationCorresponds to variant rs144809928dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi133G → A: Has 70% of wild-type testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1
Mutagenesisi133G → F: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1
Mutagenesisi133G → Q: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNETi3293.
MalaCardsiHSD17B3.
MIMi264300. phenotype.
OpenTargetsiENSG00000130948.
Orphaneti752. 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.
PharmGKBiPA29480.

Chemistry databases

ChEMBLiCHEMBL4234.

Polymorphism and mutation databases

BioMutaiHSD17B3.
DMDMi1169300.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000545731 – 310Testosterone 17-beta-dehydrogenase 3Add BLAST310

Proteomic databases

PaxDbiP37058.
PeptideAtlasiP37058.
PRIDEiP37058.

PTM databases

iPTMnetiP37058.
PhosphoSitePlusiP37058.

Expressioni

Tissue specificityi

Testis.

Gene expression databases

BgeeiENSG00000130948.
CleanExiHS_HSD17B3.
ExpressionAtlasiP37058. baseline and differential.
GenevisibleiP37058. HS.

Organism-specific databases

HPAiHPA015307.
HPA056833.

Interactioni

Protein-protein interaction databases

BioGridi109526. 10 interactors.
IntActiP37058. 10 interactors.
STRINGi9606.ENSP00000364412.

Chemistry databases

BindingDBiP37058.

Structurei

3D structure databases

ProteinModelPortaliP37058.
SMRiP37058.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1014. Eukaryota.
COG0300. LUCA.
GeneTreeiENSGT00390000010069.
HOGENOMiHOG000039237.
HOVERGENiHBG005478.
InParanoidiP37058.
KOiK10207.
OMAiHFWKVLP.
OrthoDBiEOG091G06T2.
PhylomeDBiP37058.
TreeFamiTF314591.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR033281. HSD17B3.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PTHR24322:SF621. PTHR24322:SF621. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFiPIRSF000126. 11-beta-HSD1. 1 hit.
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P37058-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW
60 70 80 90 100
AVITGAGDGI GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV
110 120 130 140 150
KIIQADFTKD DIYEHIKEKL AGLEIGILVN NVGMLPNLLP SHFLNAPDEI
160 170 180 190 200
QSLIHCNITS VVKMTQLILK HMESRQKGLI LNISSGIALF PWPLYSMYSA
210 220 230 240 250
SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN TNVITKTADE
260 270 280 290 300
FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV
310
AYLKLNTKVR
Length:310
Mass (Da):34,516
Last modified:November 1, 1995 - v2
Checksum:i0643FF35ED979185
GO
Isoform 2 (identifier: P37058-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     225-274: Missing.

Note: No experimental confirmation available.
Show »
Length:260
Mass (Da):29,109
Checksum:i81CBF73E81169EF1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01487031V → I.1 PublicationCorresponds to variant rs2066480dbSNPEnsembl.1
Natural variantiVAR_01606756A → T in MPH; Cambridge-2; affects NADPH cofactor binding. 1 PublicationCorresponds to variant rs119481078dbSNPEnsembl.1
Natural variantiVAR_01606865S → L in MPH. 1 PublicationCorresponds to variant rs747329682dbSNPEnsembl.1
Natural variantiVAR_00695380R → Q in MPH; Gaza. 1 PublicationCorresponds to variant rs119481075dbSNPEnsembl.1
Natural variantiVAR_00695480R → W in MPH. 1 PublicationCorresponds to variant rs119481077dbSNPEnsembl.1
Natural variantiVAR_016069130N → S in MPH; Cambridge-1; complete loss of activity. 1 PublicationCorresponds to variant rs119481079dbSNPEnsembl.1
Natural variantiVAR_075369133G → R in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity; no effect on protein abundance; no effect on endoplasmic reticulum location. 1 PublicationCorresponds to variant rs747724352dbSNPEnsembl.1
Natural variantiVAR_016070176Q → P in MPH. 1 PublicationCorresponds to variant rs767259718dbSNPEnsembl.1
Natural variantiVAR_006955203A → V in MPH. 1 PublicationCorresponds to variant rs119481076dbSNPEnsembl.1
Natural variantiVAR_016071205V → E in MPH. 1 PublicationCorresponds to variant rs372027264dbSNPEnsembl.1
Natural variantiVAR_016072208F → I in MPH. 1 Publication1
Natural variantiVAR_016203215E → D in MPH. 1 PublicationCorresponds to variant rs115063639dbSNPEnsembl.1
Natural variantiVAR_006956232S → L in MPH. 1 PublicationCorresponds to variant rs28939085dbSNPEnsembl.1
Natural variantiVAR_006957235M → V in MPH. 1 PublicationCorresponds to variant rs119481074dbSNPEnsembl.1
Natural variantiVAR_016073268C → Y in MPH; complete loss of activity. 1 PublicationCorresponds to variant rs119481080dbSNPEnsembl.1
Natural variantiVAR_016074282P → L in MPH. 1 PublicationCorresponds to variant rs144809928dbSNPEnsembl.1
Natural variantiVAR_061844289G → C.Corresponds to variant rs2066479dbSNPEnsembl.1
Natural variantiVAR_061845289G → R.Corresponds to variant rs2066479dbSNPEnsembl.1
Natural variantiVAR_014871289G → S.2 PublicationsCorresponds to variant rs2066479dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056640225 – 274Missing in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05659 mRNA. Translation: AAC50066.1.
AY341031 Genomic DNA. Translation: AAP88937.1.
BT019371 mRNA. Translation: AAV38178.1.
AL160269 Genomic DNA. No translation available.
BC034281 mRNA. Translation: AAH34281.1.
CCDSiCCDS6716.1. [P37058-1]
PIRiS43928.
RefSeqiNP_000188.1. NM_000197.1. [P37058-1]
XP_011516920.1. XM_011518618.2. [P37058-1]
XP_011516921.1. XM_011518619.2. [P37058-1]
XP_016870160.1. XM_017014671.1. [P37058-1]
XP_016870161.1. XM_017014672.1. [P37058-1]
UniGeneiHs.477.

Genome annotation databases

EnsembliENST00000375262; ENSP00000364411; ENSG00000130948. [P37058-2]
ENST00000375263; ENSP00000364412; ENSG00000130948. [P37058-1]
GeneIDi3293.
KEGGihsa:3293.
UCSCiuc010msc.1. human. [P37058-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05659 mRNA. Translation: AAC50066.1.
AY341031 Genomic DNA. Translation: AAP88937.1.
BT019371 mRNA. Translation: AAV38178.1.
AL160269 Genomic DNA. No translation available.
BC034281 mRNA. Translation: AAH34281.1.
CCDSiCCDS6716.1. [P37058-1]
PIRiS43928.
RefSeqiNP_000188.1. NM_000197.1. [P37058-1]
XP_011516920.1. XM_011518618.2. [P37058-1]
XP_011516921.1. XM_011518619.2. [P37058-1]
XP_016870160.1. XM_017014671.1. [P37058-1]
XP_016870161.1. XM_017014672.1. [P37058-1]
UniGeneiHs.477.

3D structure databases

ProteinModelPortaliP37058.
SMRiP37058.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109526. 10 interactors.
IntActiP37058. 10 interactors.
STRINGi9606.ENSP00000364412.

Chemistry databases

BindingDBiP37058.
ChEMBLiCHEMBL4234.
SwissLipidsiSLP:000001270. [P37058-1]

PTM databases

iPTMnetiP37058.
PhosphoSitePlusiP37058.

Polymorphism and mutation databases

BioMutaiHSD17B3.
DMDMi1169300.

Proteomic databases

PaxDbiP37058.
PeptideAtlasiP37058.
PRIDEiP37058.

Protocols and materials databases

DNASUi3293.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375262; ENSP00000364411; ENSG00000130948. [P37058-2]
ENST00000375263; ENSP00000364412; ENSG00000130948. [P37058-1]
GeneIDi3293.
KEGGihsa:3293.
UCSCiuc010msc.1. human. [P37058-1]

Organism-specific databases

CTDi3293.
DisGeNETi3293.
GeneCardsiHSD17B3.
HGNCiHGNC:5212. HSD17B3.
HPAiHPA015307.
HPA056833.
MalaCardsiHSD17B3.
MIMi264300. phenotype.
605573. gene.
neXtProtiNX_P37058.
OpenTargetsiENSG00000130948.
Orphaneti752. 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.
PharmGKBiPA29480.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1014. Eukaryota.
COG0300. LUCA.
GeneTreeiENSGT00390000010069.
HOGENOMiHOG000039237.
HOVERGENiHBG005478.
InParanoidiP37058.
KOiK10207.
OMAiHFWKVLP.
OrthoDBiEOG091G06T2.
PhylomeDBiP37058.
TreeFamiTF314591.

Enzyme and pathway databases

UniPathwayiUPA00367.
BioCyciMetaCyc:HS05461-MONOMER.
ZFISH:HS05461-MONOMER.
BRENDAi1.1.1.51. 2681.
1.1.1.64. 2681.
ReactomeiR-HSA-193048. Androgen biosynthesis.
R-HSA-75876. Synthesis of very long-chain fatty acyl-CoAs.

Miscellaneous databases

GeneWikiiHSD17B3_(gene).
GenomeRNAii3293.
PROiP37058.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130948.
CleanExiHS_HSD17B3.
ExpressionAtlasiP37058. baseline and differential.
GenevisibleiP37058. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR033281. HSD17B3.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PANTHERiPTHR24322. PTHR24322. 2 hits.
PTHR24322:SF621. PTHR24322:SF621. 2 hits.
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFiPIRSF000126. 11-beta-HSD1. 1 hit.
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDHB3_HUMAN
AccessioniPrimary (citable) accession number: P37058
Secondary accession number(s): Q5U0Q6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 1, 1995
Last modified: November 2, 2016
This is version 168 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.